Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MC1R (melanocortin 1 receptor)

Identity

Alias_namesmelanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Alias_symbol (synonym)MSH-R
Other aliasCMM5
SHEP2
HGNC (Hugo) MC1R
LocusID (NCBI) 4157
Atlas_Id 191
Location 16q24.3  [Link to chromosome band 16q24]
Location_base_pair Starts at 89917879 and ends at 89920977 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ACY1 (3p21.2) / MC1R (16q24.3)TCF25 (16q24.3) / MC1R (16q24.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
  Dysplastic nevus syndrome (DNS) Familial melanoma

External links

Nomenclature
HGNC (Hugo)MC1R   6929
Cards
Entrez_Gene (NCBI)MC1R  4157  melanocortin 1 receptor
AliasesCMM5; MSH-R; SHEP2
GeneCards (Weizmann)MC1R
Ensembl hg19 (Hinxton)ENSG00000258839 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000258839 [Gene_View]  ENSG00000258839 [Sequence]  chr16:89917879-89920977 [Contig_View]  MC1R [Vega]
ICGC DataPortalENSG00000258839
TCGA cBioPortalMC1R
AceView (NCBI)MC1R
Genatlas (Paris)MC1R
WikiGenes4157
SOURCE (Princeton)MC1R
Genetics Home Reference (NIH)MC1R
Genomic and cartography
GoldenPath hg38 (UCSC)MC1R  -     chr16:89917879-89920977 +  16q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MC1R  -     16q24.3   [Description]    (hg19-Feb_2009)
MC1R - 16q24.3 [CytoView hg19]  MC1R - 16q24.3 [CytoView hg38]
Mapping of homologs : NCBIMC1R [Mapview hg19]  MC1R [Mapview hg38]
OMIM155555   203200   266300   613098   613099   
Gene and transcription
Genbank (Entrez)AK024232 AK054666 AK225902 AK311630 BC007856
RefSeq transcript (Entrez)NM_002386
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MC1R
Cluster EST : UnigeneHs.734194 [ NCBI ]
CGAP (NCI)Hs.734194
Alternative Splicing GalleryENSG00000258839
Gene ExpressionMC1R [ NCBI-GEO ]   MC1R [ EBI - ARRAY_EXPRESS ]   MC1R [ SEEK ]   MC1R [ MEM ]
Gene Expression Viewer (FireBrowse)MC1R [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4157
GTEX Portal (Tissue expression)MC1R
Human Protein AtlasENSG00000258839-MC1R [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01726   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01726  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01726
Splice isoforms : SwissVarQ01726
PhosPhoSitePlusQ01726
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (EBI)GPCR_Rhodpsn    GPCR_Rhodpsn_7TM    Melcrt_ACTH_rcpt    MSH_rcpt   
Domain families : Pfam (Sanger)7tm_1 (PF00001)   
Domain families : Pfam (NCBI)pfam00001   
Domain families : Smart (EMBL)7TM_GPCR_Srsx (SM01381)  
Conserved Domain (NCBI)MC1R
DMDM Disease mutations4157
Blocks (Seattle)MC1R
SuperfamilyQ01726
Human Protein Atlas [tissue]ENSG00000258839-MC1R [tissue]
Peptide AtlasQ01726
HPRD01118
IPIIPI00152453   IPI01013705   IPI01015284   IPI01011318   IPI01026537   
Protein Interaction databases
DIP (DOE-UCLA)Q01726
IntAct (EBI)Q01726
FunCoupENSG00000258839
BioGRIDMC1R
STRING (EMBL)MC1R
ZODIACMC1R
Ontologies - Pathways
QuickGOQ01726
Ontology : AmiGOmelanocortin receptor activity  melanocyte-stimulating hormone receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  adenylate cyclase-activating G protein-coupled receptor signaling pathway  multicellular organism development  G protein-coupled peptide receptor activity  UV protection  positive regulation of protein kinase A signaling  sensory perception of pain  ubiquitin protein ligase binding  negative regulation of tumor necrosis factor production  intracellular signal transduction  melanin biosynthetic process  pigmentation  positive regulation of transcription by RNA polymerase II  positive regulation of protein kinase B signaling  UV-damage excision repair  positive regulation of protein kinase C signaling  
Ontology : EGO-EBImelanocortin receptor activity  melanocyte-stimulating hormone receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  adenylate cyclase-activating G protein-coupled receptor signaling pathway  multicellular organism development  G protein-coupled peptide receptor activity  UV protection  positive regulation of protein kinase A signaling  sensory perception of pain  ubiquitin protein ligase binding  negative regulation of tumor necrosis factor production  intracellular signal transduction  melanin biosynthetic process  pigmentation  positive regulation of transcription by RNA polymerase II  positive regulation of protein kinase B signaling  UV-damage excision repair  positive regulation of protein kinase C signaling  
Pathways : KEGGNeuroactive ligand-receptor interaction    Melanogenesis   
NDEx NetworkMC1R
Atlas of Cancer Signalling NetworkMC1R
Wikipedia pathwaysMC1R
Orthology - Evolution
OrthoDB4157
GeneTree (enSembl)ENSG00000258839
Phylogenetic Trees/Animal Genes : TreeFamMC1R
HOGENOMQ01726
Homologs : HomoloGeneMC1R
Homology/Alignments : Family Browser (UCSC)MC1R
Gene fusions - Rearrangements
Fusion : QuiverMC1R
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMC1R [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MC1R
dbVarMC1R
ClinVarMC1R
1000_GenomesMC1R 
Exome Variant ServerMC1R
ExAC (Exome Aggregation Consortium)ENSG00000258839
GNOMAD BrowserENSG00000258839
Varsome BrowserMC1R
Genetic variants : HAPMAP4157
Genomic Variants (DGV)MC1R [DGVbeta]
DECIPHERMC1R [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMC1R 
Mutations
ICGC Data PortalMC1R 
TCGA Data PortalMC1R 
Broad Tumor PortalMC1R
OASIS PortalMC1R [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMC1R  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMC1R
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch MC1R
DgiDB (Drug Gene Interaction Database)MC1R
DoCM (Curated mutations)MC1R (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MC1R (select a term)
intoGenMC1R
Cancer3DMC1R(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM155555    203200    266300    613098    613099   
Orphanet370    3560    11458   
DisGeNETMC1R
MedgenMC1R
Genetic Testing Registry MC1R
NextProtQ01726 [Medical]
TSGene4157
GENETestsMC1R
Target ValidationMC1R
Huge Navigator MC1R [HugePedia]
snp3D : Map Gene to Disease4157
BioCentury BCIQMC1R
ClinGenMC1R
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4157
Chemical/Pharm GKB GenePA30673
Clinical trialMC1R
Miscellaneous
canSAR (ICR)MC1R (select the gene name)
DataMed IndexMC1R
Probes
Litterature
PubMed330 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMC1R
EVEXMC1R
GoPubMedMC1R
iHOPMC1R
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 21 15:55:10 CET 2019
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